Debra

Age at interview: 33

Brief Outline: Debra was diagnosed with X-linked Alport Syndrome when she was a baby. She remembers going to the hospital about once a year for check-ups from a young age. Her Dad had Alport Syndrome and had multiple health problems throughout his life, which greatly affected her feelings about having children.

Background: Debra works part time in recruitment. She is married and has a son, aged 3 who does not have Alport Syndrome. Ethnicity: White Scottish.

More about me...

Debra was diagnosed with X-linked Alport Syndrome when she was a baby as she had “stains in her nappy”. She remembers going to the hospital about once a year from a very young age. Debra’s dad had Alport Syndrome, and had kidney failure when he was 17 years old, so she was very aware of the condition growing up. Her Dad had two kidney transplants and was on dialysis for 10 years before his second transplant. He experienced many side effects from dialysis and the related medications, including skin cancer, poor eyesight and hearing. He also developed angina which advanced into more serious heart problems. He sadly died at the age of 48.

Debra experiences very few symptoms from having Alport Syndrome, but does take medication to reduce any protein leak from her kidneys. She has a yearly check-up which involves giving a urine sample, a blood test, a weight check and general chat of “how things are”. She likes and trusts her renal clinic, and she stayed with the same clinic even after moving house. She finds the staff “approachable and available” and she can phone them to ask any questions. Debra also has an eye condition called keratoconus which is degenerative, but it does not affect her vision at the moment.

Debra has not found her GP care very good; she feels GPs often lack understanding and interest about her condition. She has “had to fight” to get her medication on repeat prescription as previously her GP insisted on an appointment every time, which she found very inconvenient. At first, Debra found her medication difficult to tolerate at high doses as she felt faint, so she now takes a lower dosage. 

Debra has found it hard to get information about her condition. Most of what she knows about Alport Syndrome has been through her own research on the internet. Her genetic counsellor gave her useful information before she became pregnant, but they weren’t able to provide her with the whole picture of what Alport Syndrome actually is.

Debra and her partner waited and talked a lot about the decision to have children. They eventually decided to have their first child naturally and did a genetic test during the pregnancy to determine whether their son had Alport Syndrome. She feels this was important because she saw how much her own dad suffered and did not want her own child to go through the same thing. She feels she was “very lucky” that her son did not have the Alport gene. Debra felt “well looked after” up until the birth of her son. However, Debra felt her post-natal care was very different. After having a caesarean, she was left in the recovery room for 2 days as the hospital lacked space. The morning after she had given birth, the midwife tried to get her out of bed but Debra lost consciousness. She had extremely low blood pressure and had not been given any food or water. Debra felt like this could have been avoided and her care could have been a lot better. Debra and her husband are considering Preimplantation Genetic Diagnosis (PGD) for their second child.

Debra’s message to health professionals would be that “you have a duty to understand the condition of the person who is in your care”, especially if it is a rare condition. She would advise other people with Alport Syndrome to get involved in research to help others and would advise other female carriers to keep going to their check-ups, even if they have no symptoms. 
 

Debra explains her family history of Alport Syndrome and being very aware of the condition.

I don't really remember - you know - sort of discovering Alports as such. So, when I was a child, I always remember going to the hospital. So I went to the hospital every year, I think.

Just to the renal clinic for check-ups. Because obviously my parents, they knew when I was a baby. 

So I got the Alports from my Dad. So he- my Dad and his brother both had it. My Dad is dead ten years now.

Okay.

But his brother is still alive.

Right.

So they both had Alports. And my Dad had his first - well, his kidneys failed when he was about 17. And he had his transplant when he was 23, I think. Because it was only with the transplant that they were able to have me. Because I don't think you're able to when you're on dialysis. So he had that transplant. But then that rejected when I was about 2. And then he was on dialysis on until I was 12, when he then got a second transplant. And that second transplant, you know, sort of saw him right through. It was on its way out towards, you know, when he died. But it saw him right through. His brother is - he's the same age as my Mum. So his brother's almost 58. And he's still on his second transplant. But I think it's quite, I think it's functioning at about ten, fifteen percent, I don't think it's particularly great. But he had, but they both had two transplants. So I was very aware of it, obviously, you know, I grew up with my Dad being ill and being on dialysis. And, you know, having lots and lots of health problems. So I was very, very aware of the condition. 

Debra describes feeling well and that she looks to other family members like her Granny who is 79 and well.

I mean, all I can really base it on at the moment is that, when I have my appointments everything seems to be in check, everything seems to be okay. I am generally well, I don't - as I say, I don't experience any symptoms. And then looking at my family, obviously my Dad's not alive any more, but his mum - my Granny, where the condition came from, she is very well. You know, as I say, she's I think, she's about 79 now. She's well. She's never been ill. She's never been on dialysis. She's never needed a transplant. You know, she's - she is well. But yeah, I mean, it is a worry. Because you just don't know, and you don't know how things will turn out if you're - you know - your sort of function’ll drop at some point. You just don't know.

I, well, it's difficult because I always think well, you know, I've got two parents and look what happened to one of them. And that's where the condition comes from. But my husband and my Mum, obviously but - you have to benchmark yourself against the other female. And actually, my Granny is the closest, in terms of the condition, to me. And I have to look at her and think well, you know, she's doing pretty well, and she's never had any problems, so.

Debra says that although she moved, she prefers to keep attending appointments at her old hospital.

It's once - so it's once a year. Obviously I used to attend the hospital in [place] and saw the sort of same team of doctors there.

And then when I relocated to London, we used - where we used to live was actually right next to [university], which was just lucky [laughs] that we were next to such a good hospital. So I started attending the renal clinic there. And actually I still go, because I really like the consultant there, and I don't really want to change out here.

And it's easy for me to get there.

Oh, so you go still back there every year?

Yeah. Oh I just get the train straight there, it's easy. So, and I said to them like "Please don't make me move hospital" [laughs]. And they were like "Well as long as you're okay with it, it's fine." 

Oh, that's good.

So they're a really, really good team there as well. But the appointment, I mean, it's pretty basic. You know, it's a urine sample, a blood test, check your weight, have a chat about how things are.

Although Debra feels healthy, she feels it is very important for women like her to still get check-ups every year.

I would encourage people to make sure that they always get themself checked out. Because I think it would be really easy for someone like me to say "Well I don't have any symptoms, and I'm fine, I'm not gonna bother going to my yearly appointments." Which I think would just be silly, because otherwise how would you ever know? I mean, these - one of the doctors in [place] when I was much younger said to me "Well you don't even need to keep coming if you don't want to, we think you're fine." 

Really?

And I thought well, if I'm allowed to keep coming I think I will, thanks [laugh]. And I think that was a bit irresponsible actually. Because you know, for example, in pregnancy, who would have been there? And I think it's good obviously, because they think I'm healthy, and I don't - you know, I'm not ill. Which is great. But I would never know if anything changed, if I didn't go. So I would just encourage people to make sure you just keep getting yourself checked out. It's not a massive inconvenience, really.

Debra had a CVS test during pregnancy and says they would have terminated the pregnancy if their baby had Alport Syndrome.

So, we looked into obviously the, the sort of genetics of having a baby. And, you know, doing the -

Yeah. Selection.

- the selection, PGD at [name of hospital] hospital. They said to us "You know, your chances - you've got a seventy five percent chance basically of having a healthy child. We can't give you anything close to that, you know, so you should probably give it a go yourself" [laughs]. So we were like, "Okay." So we did. And, so again, as soon as I found out I was pregnant, I had to know exactly - I had to go for a dating scan, because I had to know exactly how many days, weeks and days I was. So I then started being under the care of the early pregnancy unit at [hospital]. And they did all the prenatal testing. So they did the blood test at nine and a half weeks, which determines the sex of the baby. 

And once we discovered it was a boy, they then did a CVS. I don't know if you know what CVS is?

Ah. Could you just explain it?

It's a needle, like the size of a knitting needle basically, but super thin. And you get a [local] anaesthetic in your stomach. And then they insert the needle into the placenta. They take a sample of the placenta, which then gets tested. And they test the genes basically, to find out - because it was a boy, if he was carrying, you know, Alport’s. Obviously if it had been a female they wouldn't have done that. Because the test itself carries a risk of miscarriage, and.

They can only - there's only a certain window they can do it. You know, it's twelve weeks, and then if it doesn't work, that's it. So it was a massively, massively stressful time.

Because we found out I was pregnant at six weeks. This, we obviously went through all this. This test happened at twelve weeks. And then we had to wait for the results. It was only two days we had to wait, but we thought it was gonna be longer. So obviously they phoned us up, and they said "You know, the test predicts that your son does not have Alports." And we've got a letter that says that as well. So it was, it was all good from a genetic point of view, from twelve weeks.

So you could have four different types of children. So you could have a boy with Alports syndrome, a boy with nothing. A girl a carrier like me, and a girl with nothing.

So really, you've actually only got a one in four chance of an ill child.

But, you know. And this is what all the doctors were trying to say to me. But then my argument back to them was, "Well that didn't really work out for my grandparents, because they had two boys and they were both ill, and one is now dead."

So, that doesn't really fill me with comfort. I could see where they were coming from. So, I mean, and [sigh]. If the baby had been carrying Alport syndrome, we wouldn't have continued with the pregnancy.

Really?

Yeah. And we made that decision. Because I have seen the condition, I know the reality of it, I know what you'd be signing someone up for. And I couldn't do that. I couldn't do that.

It stops with me. It doesn't go any further. So my Dad's brother has no children. I'm an only child. It stops with me. So if I can stop it, it doesn't go any further. If I have another child with it just goes on and on and on.

Debra says she takes her blood pressure medication before bed to help with side effects.

Yeah, so it's just bringing it down. Exactly. And I take it before bed. Because when they very first prescribed it to me, they said to me "If you take it before you go to bed, even if you do get low blood pressure, you're gonna be sleeping anyway, so it doesn't matter." But a couple of times I got up in the morning, and I was in the shower, and I thought I was - I had to sit down in the shower, I thought I was gonna faint. I went into like a cold sweat, and. And my, my doctor was like - he actually, he's prescribed me now 2.5mg, but actually in 1.25mg, so I can split the dosage if I want. I've never had to do it. But he said "At least that way you've got the option if you are struggling. You could try and split it, to reduce the impact." But I've never had to do it, so.

Debra has ‘keratoconus’ which might be linked to Alport Syndrome.

So yeah. I mean, other things that I - the only other thing that I have, I mean, I wouldn't even really describe it as a symptom, is I've got an eye condition.

You did mention that, yeah.

Keratoconus it's called. 

Yeah, can you describe that?

Yeah. So it was years ago. It was about ten years ago, or maybe not as long as that, but - I just had some headaches. And whether they were linked to my eyesight or not, I don't know. But I just thought do you know what, I've never had my eyes tested, I should probably go. And I went to just like an Optical Express or something, and they said I had a stigmatism. Like it was to do with the shape of my eye, or something like that.

Oh, okay. Yeah.

They were like - we can't really help you, you need to go to an eye, like a proper like hospital and see someone a bit more specialist.

Did you mention that you had Alports then?

Not to the optician. Because I thought 'they're really not gonna understand'. And I had absolutely no idea that it would be - I was expecting just for my eyesight maybe to not be okay. But there was actually nothing wrong with my eyesight, it was to do with my actual shape of eyes.

Stigmatism, yeah.

So I went to - again, this was in [place]. I went to the - I think it was [name of] hospital. They had a specialist eye department. And at that point we discussed Alports. And actually I saw a doctor who was like "Yeah, there's definitely a link." And I was like "Oh, right." And I had never heard of keratoconus, ever. And what they - the way they described it to me was, it was like your - your eyeball is supposed to be - imagine a football. If you cut a football in half, that's how your eyeball should be shaped. They said, "And yours is more like a rugby ball. It's pointed."

And that's what keratoconus is. It's a thinning of the cornea. And he was like, "So basically it's a degenerative condition. There's nothing we can do about it. And it could continue just to thin and thin, and thin and thin. In which case you would need a cornea transplant in the future." 

And I was like "Oh, okay" [laugh]. And so I went to the eye hospital, then I relocated, I went to [eye hospital] and I saw them. And they were like - like there's nothing wrong with my vision [laugh]. And, because they talked about me wearing these hard lenses and everything. Because normal contacts would do nothing, because they would just go round the shape of my eye. What they said was "A hard lens forces your eye to look through the shape that it should be."

And that's why it's a hard lens. And they gave me these hard lenses, and I just - it's like putting stones in your eye. I couldn't wear them. And, it turned out that the only reason they gave them to me was because they thought I needed them for vision. And I said "No, I don't need them." And he said "Well don't wear them, then" [laughs]. So my actual vision is fine.

And I went to [the eye hospital], and it was quite funny, because I had a few people come round to see me, because I think it is quite rare. 

There was a few doctors coming and asking me a few questions about the condition, and Alports and things.

Debra remembers her dad having dialysis at home with help from her mum and the difference the transplant made to his life.

I mean, I don't know any different, obviously. But, you know, yeah. I mean, my - so, when I was a child, my Mum and Dad had the home dialysis. So they had the dialysis unit in the house. Which, in the eighties, was a monstrosity. You know, it was an entire room in the house. So she used to do the dialysis for him. Obviously I don't remember, because I was a toddler, you know, my son's age. But then I have an absolute fear of needles. So I can assume that that's where it comes from, you know? [Laughs]. Seeing all these needles everywhere.

But I just always knew that my Dad was on dialysis. He dialysed three days a week. And, and that was it. And then he got a phone call to say he was having a transplant. I was 12. And that was like a huge thing. Because you get the phone call, and it's like "You're having it today." You know, "We've got a kidney, you're - you're coming into hospital now."

So I do remember going to see him, and - you know - obviously he'd been through a major operation, and. You know, it was a life-changing thing for him, because - you know - I had known somebody who - And then you just - you only know what you know. You know? You don't think about it.

Someone who drinks half cups of tea. Someone who, you know, as a guy who doesn't drink pints, you know, drinks little vodkas as alcohol. It just limited fluid intake. And I never questioned it.

And then suddenly he had a transplant, and was eating and drinking all these things that he'd never had before. Put on loads of weight, because of all the steroids. And, you know, it was a massive - it was a massive thing in his life. You know, it was really life-changing for him. 

Specialists at the renal clinic explained that Debra would need to change her medication and that pregnancy might affect her long-term kidney function.

So obviously when I was attending the renal clinic at [hospital], I - you know - spoke to them about potential pregnancies. And obviously, you know, because - there's two things to consider with pregnancy. There's my own health, but there's also the genetics of passing it on. So there's two problems really. Which I dealt with two separate people as well, there's not one person to manage both of that. So I spoke to them, and they said to me "Look, you know, anyone as they get older - a healthy normal person, you know, the older you get, the more problems you get in pregnancy. That's just simple. You will get slightly more. So you have to take that into consideration if you do want to have a baby, you really kind of need to get on and do it." And I was like "Oh right, okay." And I said, so - talked about obviously kidney function.

And he says "Well, as soon as you find out you're pregnant, you have to stop taking ramipril. You can't take that ramipril in pregnancy. You also can't take it when you're breastfeeding." He said, "You probably could take it when you're breastfeeding, but there's not enough research to make, give them the comfort that it's okay." He said "Probably it would be okay, but we don't want you to take it. But you absolutely can't take it in your pregnancy." I says "Yeah, okay." He said, "Obviously if you find out you're pregnant, you get in touch with us, because obviously we want to monitor you through that.” So obviously not taking the ramipril, that has an impact on kidney readings. 

"But also pregnancy itself," he said. "So, you know, to be aware of risks. You could sail through your pregnancy, your kidney function remains unchanged and life goes on as normal." He says "You could lose a bit of kidney function during your pregnancy, which could then come back after. You could lose kidney function during your pregnancy, which never returns. And there's no way of predicting. Everyone's different, and there's no - there's no way of knowing what's gonna happen."

But what he said was, "Worst case scenario. If you did lose some kidney function that never returned, then you're in a good position, because you've got good kidney function to start with anyway. You're in a good starting position. So you have to think about that as a positive." And I was like, "Okay." Other thing to consider is, I'm at a higher risk for pre-eclampsia. "Only slightly," he said. "I mean, it's like if a normal person's at a fifteen percent risk, you're at a twenty percent risk. You know, it's not massive, but there is an increased risk, so."

Debra had a CVS test at 12 weeks once she found out she was carrying a boy and says she wouldn’t have continued the pregnancy if her baby had Alport Syndrome.

And, so again, as soon as I found out I was pregnant, I had to know exactly - I had to go for a dating scan, because I had to know exactly how many days, weeks and days I was. So I then started being under the care of the early pregnancy unit at [hospital]. And they did all the prenatal testing. So they did the blood test at nine and a half weeks, which determines the sex of the baby. 

And once we discovered it was a boy, they then did a CVS. I don't know if you know what CVS is? 

Ah. Could you just explain it?

It's a needle, like the size of a knitting needle basically, but super thin. And you get a anaesthetic in your stomach. And then they insert the needle into the placenta. They take a sample of the placenta, which then gets tested. And they test the genes basically, to find out - because it was a boy, if he was carrying, you know, Alports. Obviously if it had been a female they wouldn't have done that. Because the test itself carries a risk of miscarriage, and.

Yes. Yeah.

They can only - there's only a certain window they can do it. You know, it's twelve weeks, and then if it doesn't work, that's it. So it was a massively, massively stressful time.

Because we found out I was pregnant at six weeks. This, we obviously went through all this. This test happened at twelve weeks. And then we had to wait for the results. It was only two days we had to wait, but we thought it was gonna be longer. So obviously they phoned us up, and they said "You know, the test predicts that your son does not have Alports." And we've got a letter that says that as well. So it was, it was all good from a genetic point of view, from twelve weeks.

So you could have four different types of children. So you could have a boy with Alports syndrome, a boy with nothing. A girl a carrier like me, and a girl with nothing.

So really, you've actually only got a one in four chance of an ill child.

But, you know. And this is what all the doctors were trying to say to me. But then my argument back to them was, "Well that didn't really work out for my grandparents, because they had two boys and they were both ill, and one is now dead."

So, that doesn't really fill me with comfort. I could see where they were coming from. So, I mean, and [sigh]. If the baby had been carrying Alport syndrome, we wouldn't have continued with the pregnancy.

Really?

Yeah. And we made that decision. Because I have seen the condition, I know the reality of it, I know what you'd be signing someone up for. And I couldn't do that. I couldn't do that.

Yes, yeah.

So I wouldn't have continued with it. And I, and I - I'm the only person now who has it. As in –

It stops with you.

It stops with me. It doesn't go any further. So my Dad's brother has no children. I'm an only child. It stops with me. So if I can stop it, it doesn't go any further. If I have another child with it, it just goes on and on and on.

Debra felt her pre-natal care and delivery were excellent but that the post-natal medical team had no understanding of her kidney problems.

And the consultant had left notes to say, if readings go beyond a certain level, it's an emergency Caesarean. So they had all their instructions from her over the weekend. But then Monday morning came, and the midwives came round at eight o'clock in the morning and said to me "You're having your Caesarean this morning." And I was like "Oh, okay." She said the lady who was booked in this morning had to deliver an emergency over the weekend, and you're top of the list. So you're up." [Laughs].

Oh my gosh, that's quick, wasn't it.

So, yeah. So I ended up, [my son] was born on the Monday morning. 

Wow. So you were - were you quite rushed in?

No, it was - no. It wasn't at all. And that was - I would hate to have had an emergency. It was so relaxed and calm. The anaesthetist was brilliant. You know, he said "This is not an emergency, you know, we've got lots of time. You ask any questions, you know, we're not in a rush." So the, the theatre staff were fantastic. They were really, really good. And I was terrified, because I'm terrified of anaesthetic. And so, so obviously he was born, and –

How did that feel, like going through that then?

I was just, I was just -

You were really worried?

Yeah. I was. I was really worried. And, but yeah then he was, then he was born and that was fine. And then I lost a lot of blood during the operation. So they say the normal amount to lose in a Caesarean is 500ml. Anything over a litre is a blood transfusion. And I lost 900ml. So I was borderline for a blood transfusion. So my - I had, I was taking iron supplements all through the pregnancy because my iron levels were low. And so my iron had dropped. And the day, was it the day after? Yeah, the day after [my son] was born, the - I - midwife got me out of bed. And I hadn't had anything to eat, I hadn't had anything to drink, my iron levels were low, I hadn't slept because I had the newborn baby. And I got out of bed, sat in the chair, and collapsed. Like completely unconscious. Because all the blood had just rushed.

Aww. Yeah.

They took my blood pressure, and my husband said that it was so low that they thought the machine wasn't working. So obviously they hit the emergency button, team of doctors appeared from nowhere. And my husband was just left, newborn baby, with me unconscious, it was not nice. And so I sort of regained consciousness with this oxygen mask.

Yeah, so I regained consciousness with this, you know, oxygen mask, all these doctors. So I started panicking. And they just raised my legs and, you know, got the blood flowing and everything again. And then they put me on a drip. 

And told me I wasn't to get out of bed, or to do anything. And actually that they were gonna take another blood sample to check if I did need a blood transfusion. But they came back the next morning and said that I didn't, and that - you know - things would be alright, I could go home. But the whole care throughout my pregnancy, it was just fantastic. Like I felt, really, really well looked after. And the theatre staff were excellent, delivering [my son]. But everything else was a disaster.

Aww.

You know, they were like - I was a high risk pregnancy, there wasn't a single person that knew anything. I'm not even expecting them to know about Alports, but to know about renal conditions, you know, I was a patient with a renal problem. I lost loads of blood, and I had low iron, and not one - you know - I didn't even see a doctor. Like not one person was interested. Not one person was, you know, monitoring that and making sure that everything was as it should be.

That, that side of it was really, really, really bad.

Debra would not want her next child to be conceived naturally and is considering her options.

We're thinking at the moment, you know, do we want to try and have another child? We would like to. We've made a decision that we will absolutely not do it naturally again, because we know what that's –

Not?

No. Definitely not.

Ah.

Because we went into that process last time not knowing the reality of how it would be. We've now experienced it, and we would never do it again. And actually, we don't know if we would have done it had we known what the experience was gonna be. So we're not willing to take our chances for a second time

And what we don't want to do is have to face that, already having - I think, I think your mindset's very different when you have a child to when you don't have a child.

Yes.

And I think now that we have a child, to think about a termination is something that we both think 'do you know what, we wouldn't get over that'. Not that we would have got over it before, but it would have been a different experience.

Yeah. You'd got nothing to base it on before have you - yeah.

We had nothing to base it on. And now we know exactly. We know exactly what - how stressful that is, how - the impact that it would have on our son as well. So we've decided that we definitely would not do it naturally, next time. So I have contacted the genetic counsellors at [hospital], to find out - you know - can we go and see them again? And they've said "Yeah, that's fine. Get a GP referral. But just to make you aware, now that you have a child, if you do want to do this it will cost you £12.000 per cycle."

And we've also got an appointment to see the - I think the equivalent actually of the lady at [hospital], but at [the other hospital] this time. So she's, my renal consultant's referred me to her clinic.

Yeah.

Because she does pre-pregnancy counselling for renal conditions.

Ah.

So we're gonna go and see her in April. Because, you know, I'm a few years older now, and we've just got lots of questions around - you know -, you know, does - does one pregnancy determine the next pregnancy, or?

You know, I've had pre-eclampsia already, what - what does that, what will that mean? You know? If we were to go down the PGD route, actually what impact would that have on my kidneys? So there's lots of questions that we've got for her, before we decide actually do we want to go and see the genetic counsellors. 

And given the cost, if we were, it would be a one time thing. And we would go into it on the basis of, if it's meant to be, it'll happen. And if it's not, it's not. You know, so.